chr9:133445811:G>C Detail (hg38) (ADAMTS13)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr9:136,310,932-136,310,932 View the variant detail on this assembly version.
hg38	chr9:133,445,811-133,445,811

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.2630G>C	NP_620595.1:p.Cys877Ser
	NM_139025.4:c.2723G>C	NP_620594.1:p.Cys908Ser
	NM_139027.4:c.2723G>C	NP_620596.2:p.Cys908Ser
Ensemble	ENST00000355699.7:c.2723G>C	ENST00000355699.7:p.Cys908Ser
	ENST00000356589.6:c.2630G>C	ENST00000356589.6:p.Cys877Ser
	ENST00000371916.5:c.*192G>C
	ENST00000371929.7:c.2723G>C	ENST00000371929.7:p.Cys908Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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Links

ADAMTS13

Type	Database	ID	Link
Gene	MIM	604134	OMIM
	HGNC	1366	HGNC
	Ensembl	ENSG00000160323	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.453	Congenital Thrombotic Thrombocytopenic Purpura	Ten candidate ADAMTS13 mutations in six French families with congenital thrombot...	UNIPROT	15009458	Detail
0.453	Congenital Thrombotic Thrombocytopenic Purpura	Molecular characterization of ADAMTS13 gene mutations in Japanese patients with ...	UNIPROT	14563640	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser) AND not provided	ClinVar	Detail
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic ...	DisGeNET	Detail
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman synd...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs281875301 dbSNP
Genome: hg38
Position: chr9:133,445,811-133,445,811
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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